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    1. Congenital dyserythropoietic anaemia and dyskeratosis in Australian Poll Hereford calves Australian veterinary journal · 2012 · 5 citations
    2. Interplay between fibroblast growth factor 9 (FGF9) and CD44 underlies 46,XY disorders of sex development in Kruppel‐like factor 1 (KLF‐1)‐E325K‐associated congenital dyserythropoietic anaemia (CDA‐IV) British Journal of Haematology · 2026
    3. Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay Pesquisa Veterinária Brasileira · 2023
    4. Alopecia in Belgian Blue crossbred calves: a case series BMC veterinary research · 2019
    5. TONGUE, RED 2006
    6. Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters European Journal of Human Genetics · 2023 · 1 citations
    7. SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder Cell · 2010 · 260 citations
    8. Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management. PubMed · 2022 · 188 citations
    9. The <i>hairless</i> gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor Genes & Development · 2001 · 178 citations
    10. Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management Endocrine Reviews · 2021 · 157 citations
    11. An Update of Congenital Adrenal Hyperplasia Annals of the New York Academy of Sciences · 2004 · 151 citations
    12. Methimazole, Carbimazole, and Congenital Skin Defects Annals of Internal Medicine · 1987 · 132 citations
    13. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2011 · 100 citations
    14. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2017 · 88 citations
    15. A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers The American Journal of Human Genetics · 1998 · 83 citations
    16. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006 · 81 citations
    17. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis 2006 · 74 citations
    18. Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full. Journal of Investigative Dermatology · 2002 · 69 citations
    19. Management of congenital ichthyoses: European guidelines of care, part two British Journal of Dermatology · 2018 · 66 citations
    20. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes 2015 · 53 citations
    21. A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions Experimental Dermatology · 2000 · 47 citations
    22. Congenital hypotrichosis due to short anagen British Journal of Dermatology · 2000 · 42 citations
    23. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    24. Congenital ptosis: Long-term outcome of frontalis suspension using autogenous temporal fascia or fascia lata in children Journal of Plastic Reconstructive & Aesthetic Surgery · 2009 · 39 citations
    25. A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia Journal of Investigative Dermatology · 1999 · 37 citations
    26. Congenital Triangular Alopecia (Brauer Nevus) Pediatric Dermatology · 1995 · 34 citations
    27. An overview on congenital alopecia in domestic animals Veterinary dermatology · 2006 · 32 citations
    28. Congenital alopecia areata Journal of The American Academy of Dermatology · 2005 · 32 citations
    29. Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia Journal of the American Academy of Dermatology · 1994 · 32 citations
    30. A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia. The Journal of Clinical Endocrinology & Metabolism · 1996 · 29 citations